A71G (p.Ala71Gly) variant of FBN2 (Fibrillin-2)
A71G (p.Ala71Gly) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A71G (p.Ala71Gly) variant details
- p.Ala71Gly
- rs2479827501
- ClinGen CA360762025
- ClinVar RCV003641793
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.16
- CADD 23.80
- PolyPhen-2 0.74
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Congenital Contractural Arachnodactyly. (PMID 20301560)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)